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rs386833995

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833995(C;C)
Make rs386833995(C;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position73644604
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs386833995
ebirs386833995
HLIrs386833995
Exacrs386833995
Varsomers386833995
Maprs386833995
PheGenIrs386833995
hapmaprs386833995
1000 genomesrs386833995
hgdprs386833995
ensemblrs386833995
gopubmedrs386833995
geneviewrs386833995
scholarrs386833995
googlers386833995
pharmgkbrs386833995
gwascentralrs386833995
openSNPrs386833995
23andMers386833995
23andMe allrs386833995
SNP Nexus

SNPshotrs386833995
SNPdbers386833995
MSV3drs386833995
GWAS Ctlgrs386833995
Max Magnitude0
ClinVar
Risk rs386833995(C;C)
Alt rs386833995(C;C)
Reference rs386833995(G;G)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74354327C>G
CLNSRC ClinVar
CLNACC RCV000049972.1,


[PMID 10947946OA-icon.png] The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.